EPB41

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  (Redirected from Band 4.1)
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EPB41
Protein EPB41 PDB 1gg3.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEPB41, erythrocyte membrane protein band 4.1, 4.1R, EL1, HE
External IDsOMIM: 130500 MGI: 95401 HomoloGene: 44324 GeneCards: EPB41
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for EPB41
Genomic location for EPB41
Band1p35.3Start28,887,091 bp[1]
End29,120,046 bp[1]
RNA expression pattern
PBB GE EPB41 gnf1h06881 at fs.png

PBB GE EPB41 207793 s at fs.png

PBB GE EPB41 214530 x at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001128606
NM_001128607
NM_183428

RefSeq (protein)

NP_001122078
NP_001122079
NP_906273

Location (UCSC)Chr 1: 28.89 – 29.12 MbChr 4: 131.92 – 132.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein 4.1, also known as Beatty's Protein, is a protein associated with the cytoskeleton that in humans is encoded by the EPB41 gene. Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Protein 4.1 (80 kD) interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.

Clinical significance[edit]

A schematic diagram representing the relationships between cytoskeletal molecules as relevant to hereditary elliptocytosis.

Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-spectrin gene (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM 109270) [supplied by OMIM].[5]

Interactions[edit]

Band 4.1 has been shown to interact with:

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159023 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028906 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)".
  6. ^ Hung LY, Tang CJ, Tang TK (October 2000). "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex". Mol. Cell. Biol. 20 (20): 7813–25. doi:10.1128/mcb.20.20.7813-7825.2000. PMC 86375. PMID 11003675.
  7. ^ Hou CL; Tang Cj; Roffler SR; Tang TK (July 2000). "Protein 4.1R binding to eIF3-p44 suggests an interaction between the cytoskeletal network and the translation apparatus". Blood. 96 (2): 747–53. PMID 10887144.
  8. ^ Mattagajasingh SN, Huang SC, Hartenstein JS, Snyder M, Marchesi VT, Benz EJ (April 1999). "A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein". J. Cell Biol. 145 (1): 29–43. doi:10.1083/jcb.145.1.29. PMC 2148212. PMID 10189366.
  9. ^ Mattagajasingh SN, Huang SC, Hartenstein JS, Benz EJ (September 2000). "Characterization of the interaction between protein 4.1R and ZO-2. A possible link between the tight junction and the actin cytoskeleton". J. Biol. Chem. 275 (39): 30573–85. doi:10.1074/jbc.M004578200. PMID 10874042.

Further reading[edit]

External links[edit]